APP, amyloid beta precursor protein, 351

N. diseases: 485; N. variants: 114
Disease: Familial Cerebral Amyloid Angiopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268393
Disease: Familial Cerebral Amyloid Angiopathy
Familial Cerebral Amyloid Angiopathy 		0.050 Biomarker disease BEFREE Cerebral microvascular amyloid-beta (Abeta) protein deposition is emerging as an important contributory factor to neuroinflammation and dementia in Alzheimer's disease and related familial cerebral amyloid angiopathy disorders. 16000616 2005
CUI: C0268393
Disease: Familial Cerebral Amyloid Angiopathy
Familial Cerebral Amyloid Angiopathy 		0.050 GeneticVariation disease BEFREE A mutation at codon 693 of APP has also been described as the genetic defect in hereditary cerebral hemorrhage with amyloidosis of the Dutch type (HCHWA-D). 9754958 1998
CUI: C0268393
Disease: Familial Cerebral Amyloid Angiopathy
Familial Cerebral Amyloid Angiopathy 		0.050 GeneticVariation disease BEFREE Mutations within the beta-amyloid precursor protein (beta-APP) gene that cosegregate with early onset familial Alzheimer's disease (FAD) and hereditary cerebral hemorrhage with amyloidosis of the Dutch-type (HCHWA-D) have been reported. 8515875 1993
CUI: C0268393
Disease: Familial Cerebral Amyloid Angiopathy
Familial Cerebral Amyloid Angiopathy 		0.050 GeneticVariation disease BEFREE A point mutation detected at position 1852 of the amyloid precursor protein gene in four HCHWA-D patients was hypothesized to be the basic defect. 1679289 1991
CUI: C0268393
Disease: Familial Cerebral Amyloid Angiopathy
Familial Cerebral Amyloid Angiopathy 		0.050 Biomarker disease BEFREE The data indicate that the APP gene is tightly linked to HCHWA-D and therefore, in contrast to familial Alzheimer's disease, cannot be excluded as the site of mutation in HCHWA-D. 1971458 1990